MCID: EMR002
MIFTS: 16

Emerinopathy

Categories: Rare diseases

Aliases & Classifications for Emerinopathy

MalaCards integrated aliases for Emerinopathy:

Name: Emerinopathy 53

Classifications:



Summaries for Emerinopathy

MalaCards based summary : Emerinopathy is related to emery-dreifuss muscular dystrophy and muscular dystrophy. An important gene associated with Emerinopathy is EMD (Emerin), and among its related pathways/superpathways are Cell Cycle, Mitotic and Mitotic Prophase. Related phenotype is muscle.

Related Diseases for Emerinopathy

Graphical network of the top 20 diseases related to Emerinopathy:



Diseases related to Emerinopathy

Symptoms & Phenotypes for Emerinopathy

MGI Mouse Phenotypes related to Emerinopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 EMD LMNA SUN2

Drugs & Therapeutics for Emerinopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies) Recruiting NCT03058185

Search NIH Clinical Center for Emerinopathy

Genetic Tests for Emerinopathy

Anatomical Context for Emerinopathy

Publications for Emerinopathy

Articles related to Emerinopathy:

# Title Authors PMID Year
1
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy. 38
27179216 2016
2
Professional activity of Emery-Dreifuss muscular dystrophy patients in Poland. 38
24839233 2014
3
Muscle MRI in female carriers of emerinopathy. 38
24118169 2013
4
P-wave duration and dispersion in patients with Emery-Dreifuss muscular dystrophy. 38
22011621 2011
5
Circulating tenascin-C levels in patients with dilated cardiomyopathy in the course of Emery-Dreifuss muscular dystrophy. 38
21596026 2011
6
Emery-Dreifuss dystrophy: a 4-year follow-up on a laminopathy of special interest. 38
20054742 2009
7
Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 38
18646565 2007
8
Presence of emerinopathy in cases of rigid spine syndrome. 38
9829281 1998

Variations for Emerinopathy

Expression for Emerinopathy

Search GEO for disease gene expression data for Emerinopathy.

Pathways for Emerinopathy

GO Terms for Emerinopathy

Cellular components related to Emerinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear inner membrane GO:0005637 9.16 SUN2 EMD
2 nuclear membrane GO:0031965 9.13 SUN2 LMNA EMD
3 nuclear envelope GO:0005635 8.8 SUN2 LMNA EMD

Biological processes related to Emerinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear envelope organization GO:0006998 8.96 SUN2 LMNA
2 mitotic nuclear envelope reassembly GO:0007084 8.62 LMNA EMD

Sources for Emerinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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